Canonical Allele Identifier: CA229304

Gene: PAH

Linked Data

• ClinVar Variation Id: 102494
• ClinVar RCV Id: RCV000088725 ; RCV001543633
• dbSNP Id: rs62517183
• MyVariant Identifiers: chr12:g.103238131A>T (hg19) ; chr12:g.102844353A>T (hg38)
• ERepo: CA229304/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844353A>T , CM000674.2:g.102844353A>T	GRCh38
NC_000012.11:g.103238131A>T , CM000674.1:g.103238131A>T	GRCh37
NC_000012.10:g.101762261A>T	NCBI36
NG_008690.1:g.78250T>A
NG_008690.2:g.119058T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1048T>A MANE Select	ENSP00000448059.1:p.Ser350Thr
ENST00000307000.7:c.1033T>A	ENSP00000303500.2:p.Ser345Thr
ENST00000549247.6:n.807T>A
ENST00000551114.2:n.710T>A
ENST00000553106.5:c.1048T>A	ENSP00000448059.1:p.Ser350Thr
ENST00000635477.1:c.152T>A
ENST00000635528.1:n.563T>A
NM_000277.1:c.1048T>A	NP_000268.1:p.Ser350Thr
XM_011538422.1:c.991T>A	XP_011536724.1:p.Ser331Thr
NM_000277.2:c.1048T>A	NP_000268.1:p.Ser350Thr
NM_001354304.1:c.1048T>A	NP_001341233.1:p.Ser350Thr
NM_000277.3:c.1048T>A MANE Select	NP_000268.1:p.Ser350Thr
NM_001354304.2:c.1048T>A	NP_001341233.1:p.Ser350Thr